D1370V Summary

SCN5A D1370V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1370V is not present in gnomAD. D1370V has been functionally characterized in 0 papers. Other variants at the same resdue are D1370A .D1370E .D1370E .D1370G .D1370H .D1370N .D1370V .D1370Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1370V Predictions

PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.

SIFT	Sift Score	PROVEAN Score	Polyphen2	Polyphen2 Score	eaRate	blastPssm	pamScore	REVEL
NA	NA	NA	NA	NA	NA	NA	NA	0.672

D1370V has 30 neighbors within 15 ångströms that have been found in individuals.

A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.

ResidueNumber	Distance(Å)	Variants
1355	14.7
1356	14.2
1357	13.7	A1357V
1358	13.2
1359	12.6
1360	12
1361	11.4
1362	10.7
1363	10.1
1364	9.3
1365	8.5
1366	7.6
1367	6.6
1368	5.4
1369	3.8
1371	3.8
1372	5.4
1373	6.6
1374	7.6
1375	8.5
1376	9.3
1377	10.1
1378	10.7	V1378M
1379	11.4
1380	12	N1380K N1380K p.N1380del
1381	12.6
1382	13.2	S1382I
1383	13.7
1384	14.2
1385	14.7